The Common Long-QT Syndrome Mutation KCNQ1/A341V Causes Unusually Severe Clinical Manifestations in Patients With Different Ethnic Backgrounds
Key result
The KCNQ1-A341V mutation was associated with a significantly higher likelihood of cardiac events compared to non-A341V LQT1 mutations (75% vs 24%, P<0.001).
Why the study?
Does the KCNQ1-A341V mutation increase the risk of cardiac events compared to other LQT1 mutations in patients with long-QT syndrome?
Population
449 patients with long-QT syndrome type 1, including 78 non-South African patients with a single KCNQ1-A341V…
Comparison
Presence of the KCNQ1-A341V mutation vs Non-A341V LQT1 mutations
Design
Cohort
Follow-up
median 30 to 32 years
Authors
Discussion
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Member takes
Implication
Supports enhanced surveillance for A341V LQT1 carriers; leaves open prospective validation of mutation-specific strategies.
Study Design
Type
Cohort (n=449)
Multicenter
Yes
Structured PICO
Does the KCNQ1-A341V mutation increase the risk of cardiac events compared to other LQT1 mutations in patients with long-QT syndrome?
P
Population
449 patients with long-QT syndrome type 1, including 244 with the KCNQ1-A341V mutation and 205 with non-A341V mutations, followed for a median of 30 to 32 years.
E
Exposure
Presence of the KCNQ1-A341V mutation
C
Comparator
Non-A341V LQT1 mutations (including mutations localized to transmembrane domains or exhibiting a dominant-negative effect)
O
Outcome
Probability of a first cardiac event through 40 years of agehard clinical
Main Result
Absolute Event Rate: 75% vs 24%
p-value: p=<0.001
The KCNQ1-A341V mutation is a high-risk mutation in long-QT syndrome type 1 that predicts unusually severe clinical manifestations independently of ethnic background.
Cite This Study
Crotti et al. (2007) conducted a cohort in Long-QT syndrome (LQTS) (n=449). KCNQ1-A341V mutation vs. non-A341V LQT1 mutations was evaluated on Cardiac events (p=<0.001). The KCNQ1-A341V mutation was associated with a significantly higher likelihood of cardiac events compared to non-A341V LQT1 mutations (75% vs 24%, P<0.001).